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J

Julie Richer

University of Ottawa
H指数:24
被引数:2,551

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Bi-allelic variants in CDK20 cause a severe ciliopathy with midline brain and facial anomalies

CDK20基因双等位基因变异导致伴有中线脑部和面部异常的严重纤毛病

American Journal of Human Genetics
IF8.1
2026-07-060
PRE
Gabrielle Lemire; Aren E. Marshall; Tejan S. Patel; Jonathan Trejo Martinez; Tally Lerman-Sagie; Wendy Mears; Xueqi Wang; Dorit Lev; Alison J. Eaton; Kelly Bontempo; Brad Angle; Patrick Shannon; Susan Blaser; Kym M. Boycott; Julie Richer; Karen Chong; Theodore G. Drivas; David Chitayat
Understanding the decision of parents to opt-out of medically actionable secondary findings offered through genome sequencing

理解父母选择退出通过基因组测序提供的具有临床可操作性的次要发现的原因

Journal of Genetic Counseling
IF0
2026-05-050
OAAI
Hansen, Abigail; Luca, Stephanie; Moran, Olivia; Babul-Hirji, Riyana; Coe, Teresa B.; Wilk, Kalin; Assamad, Daniel; Fooks, Katharine; Venkataramanan, Viji; Shickh, Salma; Yan, Joyce; Wu, Vercancy; Badalato, Lauren; Balci, Tugce B.; Ladouceur, Virginie Beausejour; Chad, Lauren; Chisholm, Caitlin; Gillespie, Meredith K.; Huang, Lijia; Jarinova, Olga; Lau, Lynette; Lee, Whiwon; Mackley, Michael P.; Marshall, Christian R.; Mendoza-Londono, Roberto; Morel, Chantal F.; Richer, Julie; Sawyer, Sarah; Stavropoulos, Dimitrios James; Szuto, Anna; Tarnopolsky, Mark; Villani, Anita; Zahavich, Laura; Somerville, Martin J.; Boycott, Kym M.; Ungar, Wendy J.; Hayeems, Robin Z.
Early Onset Dystonia, Parkinsonism, and Spasticity in Siblings with VAC14-Associated Neurodegeneration: A Case Report and Literature Review

早发性肌张力障碍、帕金森综合征及痉挛性瘫痪在VAC14相关神经退行性病变同胞中的表现：一例病例报告及文献综述

Movement Disorders Clinical Practice
IF2.7
2025-09-010
OAAI
Rebecca Lindsay MD; Sangeetha Yoganathan MD, DM; Wei Kang Lim MD; Pradeep Krishnan MD; Asif Doja MD; Sunita Venkateswaran MD; Julie Richer MD; Sara Breitbart MN; Nicole S.Y. Liang MSc; Alfonso Fasano MD; George M. Ibrahim MD; Carolina Gorodetsky MD
Mainstreaming of clinical genetic testing: A conceptual framework

临床遗传检测的常规化：一个概念框架

Genetics in Medicine
IF6.2
2025-05-220
OA
Michael P. Mackley; Julie Richer; Andrea Guerin; Oana Caluseriu; Linlea Armstrong; Katherine A. Blood; Francois Bernier; Christie Boswell-Patterson; Marisa Chard; Gregory Costain; David Dyment; Alison Eaton; Hanna Faghfoury; Patrick Frosk; Meredith K. Gillespie; Elaine S. Goh; Robin Z. Hayeems; Bita Hashemi; A. Micheil Innes; Molly Jackson; Kym M. Boycott
Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations

鉴定胚胎畸形复发星座的DNA甲基化epi签名

AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2024-08-011
PRE
Haghshenas, Sadegheh; Karimi, Karim; Stevenson, Roger E.; Levy, Michael A.; Relator, Raissa; Kerkhof, Jennifer; Rzasa, Jessica; McConkey, Haley; Lauzon-Young, Carolyn; Balci, Tugce B.; White-Brown, Alexandre M.; Carter, Melissa T.; Richer, Julie; Armour, Christine M.; Sawyer, Sarah L.; Bhola, Priya T.; Tedder, Matthew L.; Skinner, Cindy D.; van Rooij, Iris A. L. M.; van de Putte, Romy; de Blaauw, Ivo; Koeck, Rebekka M.; Hoischen, Alexander; Brunner, Han; Esteki, Masoud Zamani; Pelet, Anna; Lyonnet, Stanislas; Amiel, Jeanne; Boycott, Kym M.; Sadikovic, Bekim
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study
GENETICS IN MEDICINE
IF6.2
2024-02-010
PRE
Hartley, Taila; Marshall, Deborah; Acker, Meryl; Fooks, Katharine; Gillespie, Meredith K.; Price, E. Magda; Graham, Ian D.; White-Brown, Alexandre; MacKay, Layla; Macdonald, Stella K.; Brady, Lauren; Hui, Angela Y.; Andrews, Joseph D.; Chowdhury, Ashfia; Wall, Erika; Soubry, Elisabeth; Ediae, Grace U.; Rojas, Samantha; Assamad, Daniel; Dyment, David; Tarnopolsky, Mark; Sawyer, Sarah L.; Chisholm, Caitlin; Lemire, Gabrielle; Amburgey, Kimberly; Lazier, Joanna; Mendoza-Londono, Roberto; Dowling, James J.; Balci, Tugce B.; Armour, Christine M.; Bhola, Priya T.; Costain, Gregory; Dupuis, Lucie; Carter, Melissa; Badalato, Lauren; Richer, Julie; Boswell-Patterson, Christie; Kannu, Peter; Cordeiro, Dawn; Warman-Chardon, Jodi; Graham, Gail; Siu, Victoria Mok; Cytrynbaum, Cheryl; Rusnak, Alison; Aul, Ritu B.; Yoon, Grace; Gonorazky, Hernan; McNiven, Vanda; Mercimek-Andrews, Saadet; Guerin, Andrea; Deshwar, Ashish R.; Marwaha, Ashish; Weksberg, Rosanna; Karp, Natalya; Campbell, Maggie; Al-Qattan, Sarah; Shuen, Andrew Y.; Inbar-Feigenberg, Michal; Cohn, Ronald; Szuto, Anna; Inglese, Cara; Poirier, Myriam; Chad, Lauren; Potter, Beth; Boycott, Kym M.; Hayeems, Robin
The Aortic Team Model and Collaborative Decision Pathways for the Management of Complex Aortic Disease: Clinical Practice Update From the Canadian Cardiovascular Society/Canadian Society of Cardiac Surgeons/Canadian Society for Vascular Surgery/Canadian Association for Interventional Radiology
CANADIAN JOURNAL OF CARDIOLOGY
IF5.3
2023-11-015
OAAI
McClure, R. Scott; Lindsay, Thomas F.; Keir, Michelle; Bayne, Jason P.; Berry, Robert F.; Chu, Michael W. A.; Chung, Jennifer C. -Y.; Dagenais, Francois; Ducas, Robin A.; Duncan, Audra; Horne, Gabrielle; Klass, Darren; Mongeon, Francois-Pierre; Richer, Julie; Rommens, Kenton L.
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders
SCIENCE ADVANCES
IF12.5
2022-08-1917
OAAI
Jia, Xiangbin; Zhang, Shujie; Tan, Senwei; Du, Bing; He, Mei; Qin, Haisong; Chen, Jia; Duan, Xinyu; Luo, Jingsi; Chen, Fei; Ouyang, Luping; Wang, Jian; Chen, Guodong; Yu, Bin; Zhang, Ge; Zhang, Zimin; Lyu, Yongqing; Huang, Yi; Jiao, Jian; Chen, Jin Yun Helen; Swoboda, Kathryn J.; Agolini, Emanuele; Novelli, Antonio; Leoni, Chiara; Zampino, Giuseppe; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Gerard, Benedicte; Ginglinger, Emmanuelle; Richer, Julie; McMillan, Hugh; White-Brown, Alexandre; Hoekzema, Kendra; Bernier, Raphael A.; Kurtz-Nelson, Evangeline C.; Earl, Rachel K.; Meddens, Claartje; Alders, Marielle; Fuchs, Meredith; Caumes, Roseline; Brunelle, Perrine; Smol, Thomas; Kuehl, Ryan; Day-Salvatore, Debra-Lynn; Monaghan, Kristin G.; Morrow, Michelle M.; Eichler, Evan E.; Hu, Zhengmao; Yuan, Ling; Tan, Jieqiong; Xia, Kun; Shen, Yiping; Guo, Hui
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2021-11-0138
OAAI
Hochberg, Irit; Demain, Leigh A. M.; Richer, Julie; Thompson, Kyle; Urquhart, Jill E.; Rea, Alessandro; Pagarkar, Waheeda; Rodriguez-Palmero, Agusti; Schluter, Agatha; Verdura, Edgard; Pujol, Aurora; Quijada-Fraile, Pilar; Amberger, Albert; Deutschmann, Andrea J.; Demetz, Sandra; Gillespie, Meredith; Belyantseva, Inna A.; McMillan, Hugh J.; Barzik, Melanie; Beaman, Glenda M.; Motha, Reeya; Ng, Kah Ying; O'Sullivan, James; Williams, Simon G.; Bhaskar, Sanjeev S.; Lawrence, Isabella R.; Jenkinson, Emma M.; Zambonin, Jessica L.; Blumenfeld, Zeev; Yalonetsky, Sergey; Oerum, Stephanie; Rossmanith, Walter; Yue, Wyatt W.; Zschocke, Johannes; Munro, Kevin J.; Battersby, Brendan J.; Friedman, Thomas B.; Taylor, Robert W.; O'Keefe, Raymond T.; Newman, William G.
A Novel Recurrent COL5A1 Genetic Variant Is Associated With a Dysplasia-Associated Arterial Disease Exhibiting Dissections and Fibromuscular Dysplasia

一种新的复发性COL5A1遗传变异与发育不良相关的动脉疾病相关，表现为解剖和纤维肌发育不良

ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
IF7.4
2020-11-0135
OAAI
Richer, Julie; Hill, Hannah L.; Wang, Yu; Yang, Min-Lee; Hunker, Kristina L.; Lane, Jamie; Blackburn, Susan; Coleman, Dawn M.; Eliason, Jonathan; Sillon, Guillaume; D'Agostino, Maria-Daniela; Jetty, Prasad; Mongeon, Francois-Pierre; Laberge, Anne-Marie; Ryan, Stephen E.; Fendrikova-Mahlay, Natalia; Coutinho, Thais; Mathis, Michael R.; Zawistowski, Matthew; Hazen, Stanley L.; Katz, Alexander E.; Gornik, Heather L.; Brummett, Chad M.; Abecasis, Goncalo; Bergin, Ingrid L.; Stanley, James C.; Li, Jun Z.; Ganesh, Santhi K.
The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results

在重新解释遗传和基因组研究结果后重新联系研究参与者的责任

AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2019-04-0189
OAAI
Bombard, Yvonne; Brothers, Kyle B.; Fitzgerald-Butt, Sara; Garrison, Nanibaa' A.; Jamal, Leila; James, Cynthia A.; Jarvik, Gail P.; McCormick, Jennifer B.; Nelson, Tanya N.; Ormond, Kelly E.; Rehm, Heidi L.; Richer, Julie; Souzeau, Emmanuelle; Vassy, Jason L.; Wagner, Jennifer K.; Levy, Howard P.

研究方向

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K
Kym M. Boycott
H 指数:77论文数:442被引数:2.1万
A
Anne‐Marie Laberge
H 指数:23论文数:118被引数:1,761
B
Bart Loeys
H 指数:82论文数:447被引数:3.2万
A
Aline Verstraeten
H 指数:28论文数:88被引数:2,695
T
Tanya N. Nelson
H 指数:31论文数:84被引数:2,950
T
Tuğçe B. Balcı
H 指数:19论文数:75被引数:1,886
C
Christine M. Armour
H 指数:28论文数:91被引数:3,121
M
Meredith Gillespie
H 指数:12论文数:61被引数:389
J
Jacek Majewski
H 指数:93论文数:461被引数:3.2万
R
Robin Z. Hayeems
H 指数:33论文数:201被引数:4,020